MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 GeneticVariation group BEFREE Methylenetetrahydrofolate reductase gene (MTHFR), transcobalaminII (TCN2) and ring finger protein 213 (RNF213) are related to homocysteine (Hcy) level and are of great significance for hypertension. 31815282 2019
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2
0.010 GeneticVariation disease BEFREE MTHFR A1298C polymorphism is associated with saccade latency in SCA2 patients, but not with disease risk, age at onset or maximal saccade velocity. 31812845 2020
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
0.010 PosttranslationalModification disease BEFREE In particular, we assessed the impact of MTHFR as rate-limiting enzyme in DNA methylation pathways, which modulates cerebellar neurotransmission and motor neuron atrophy. 31812845 2020
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE To analyze influence of variants in TYMS, MTHFR, SLC19A1 and DHFR genes on 6-mercaptopurine (MP) induced toxicity during maintenance phase of treatment for childhood acute lymphocytic leukemia (ALL). 31786878 2020
CUI: C0042900
Disease: Vitiligo
Vitiligo
0.040 GeneticVariation disease BEFREE Determine serum homocysteine levels in vitiligo patients as well as the association between MTHFR (C677T, A1298C) and CBSgene polymorphisms and susceptibility to vitiligo in a sample of those populations. 31778995 2020
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.040 GeneticVariation disease BEFREE Determine serum homocysteine levels in vitiligo patients as well as the association between MTHFR (C677T, A1298C) and CBSgene polymorphisms and susceptibility to vitiligo in a sample of those populations. 31778995 2020
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.100 GeneticVariation disease BEFREE Further subgroup analyses in the Chinese population indicated that MTHFR C677T variant was associated with a higher risk of ischemic stroke. 31775641 2019
Squamous cell carcinoma of esophagus
0.100 GeneticVariation disease BEFREE The MTHFR C677T genotype and serum vitamin B<sub>2</sub> or B<sub>12</sub> levels may interact in ways which associated with the EPL and ESCC risks. 31754346 2019
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.400 GeneticVariation disease BEFREE PCR-DNA analysis was used to explore the genotype of the SNPs (rs4846048 and rs55763075) of the MTHFR 3'-UTR as well as the association between allelic frequencies and the CC risk. 31750632 2020
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.100 GeneticVariation disease BEFREE PCR-DNA analysis was used to explore the genotype of the SNPs (rs4846048 and rs55763075) of the MTHFR 3'-UTR as well as the association between allelic frequencies and the CC risk. 31750632 2020
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.100 GeneticVariation disease BEFREE PCR-DNA analysis was used to explore the genotype of the SNPs (rs4846048 and rs55763075) of the MTHFR 3'-UTR as well as the association between allelic frequencies and the CC risk. 31750632 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Low red blood cell folate combined with MTHFR 677C > T polymorphism statistically increased CRC risk (OR = 10.00, 95% CI = 1.36-73.42). 31740010 2019
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.100 GeneticVariation disease BEFREE This case-control study enrolled 105 new cases of CRC, 101 of colorectal adenoma (CRA), and 182 controls from hospitals in Bangkok, Thailand, to examine the association between folate status and methylenetetrahydrofolate reductase (MTHFR) 677C > T, methionine synthase (MTR) 2756A > G, and methionine synthase reductase (MTRR) 66A > G with the risk of CRC and CRA. 31740010 2019
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE Low folate status, and MTHFR 677C > T and MTR 2756A > G polymorphisms associated with colorectal cancer risk in Thais: a case-control study. 31740010 2019
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.100 Biomarker group BEFREE Moreover, the variability of the methylenetetrahydrofolate reductase gene, important in both folate metabolism and migraine pathogenesis, modulates the beneficial effects of folate for migraines. 31739474 2019
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE This study was to investigate new genetic biomarkers for ALL by analyzing the MTHFR polymorphisms at the 3'-untranslated region, which is a location bound by miRNAs. 31737664 2019
CUI: C0036572
Disease: Seizures
Seizures
0.440 GeneticVariation phenotype BEFREE Children with MTHFR C677T or A1298C polymorphisms who had normal neurological examination without a history of seizure were included in the study. 31734877 2020
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.400 GeneticVariation disease BEFREE The laboratory tests revealed high D-dimers, and positive IgG anti-cardiolipin and anti-beta2 glycoproteins I antibodies, whereas the genetic profile for thrombophilia revealed heterozygote mutation in MTHFR C677T and A1298C genes. 31725629 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.090 Biomarker disease BEFREE Thus, we conducted a meta-analysis to summarize available data on MTHFR gene and PC. 31701291 2020
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.090 Biomarker disease BEFREE Thus, we conducted a meta-analysis to summarize available data on MTHFR gene and PC. 31701291 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation disease BEFREE In summary, our findings suggested that MTHFR rs3753584, rs9651118 and rs1801133 polymorphisms may affect the risk of HCC in Chinese Han population. 31694048 2019
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease BEFREE One hundred ninety-six children with obesity (101 females, 95 males) were evaluated using anthropometric measurements, dietary intakes, plasma and RBC PUFA quantification, blood biochemistry, and 55 single nucleotide polymorphisms within 14 genes. phosphatidylethanolamine <i>N</i>-methyltransferase (<i>PEMT</i>) rs1109859 and methylenetetrahydrofolate reductase gene (<i>MTHFR</i>) rs4846052 genotypes were associated with PUFA levels in RBCs. 31671528 2019
CUI: C4021813
Disease: Oral cleft
Oral cleft
0.020 GeneticVariation disease BEFREE In the present investigation a set of 34 triads with oral cleft from Nassiriya, Iraq, has been genotyped for rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS polymorphisms. 31663440 2020
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Methylenetetrahydrofolate reductase (MTHFR) is essential in mediating folate metabolism, and thus plays an important role in diabetes and diabetic complications. 31663297 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.100 Biomarker group BEFREE Methylenetetrahydrofolate reductase (MTHFR) is essential in mediating folate metabolism, and thus plays an important role in diabetes and diabetic complications. 31663297 2019